Hafize Emine SÖNMEZ, Ezgi Deniz BATU, Yelda BİLGİNER

Immünoglobülin A Vasküliti (Henoch-Schönlein Purpura) Tanısı Olan Çocuk Hastalarda Artmış Ailevi Akdeniz Ateşi Sıklığı

GİRİŞ ve AMAÇ: İmmunoglobülin A vasküliti çocukluk çağının en sık vaskülitidir. Trombositopenik olmayan purpura, karın ağrısı, gastrointestinal kanama, artrit veya artralji ve nefrit ile karakterizedir. Ailevi Akdeniz ateşi (AAA) ise en sık görülen otoinflamatuvar hastalık olup, tekrarlayan ateş ve serozit atakları hastalığın temel özellikleridir. Çalışmamızda kliniğimizde IgAV/HSP tanısı ile takipli olan olguların genel özelliklerini, MEFV mutasyon sıklığını tespit etmeyi, AAA+IgAV/HSP olan olgularla sadece IgAV/HSP olan olguların klinik, laboratuvar ve tedavi özelliklerini karşılaştırmayı amaçladık. GEREÇ ve YÖNTEMLER: Çalışmaya 2014-2016 yılları arasında IgAV/HSP tanısı almış olan 159 olgudan MEFV analizi yapılmış olan 114 olgu dâhil edildi. IgAV/HSP tanısı ile takipli olguların geriye dönük olarak MEFV mutasyon sonuçları, demografik, klinik özellikleri ve tanı anındaki laboratuvar bulguları kaydedildi. Ayrıca IgAV/HSP+AAA tanısı olan hastalar ile sadece IgAV/HSP olan hastalar karşılaştırıldı. BULGULAR: 88 olguda MEFV mutasyonu tespit edilmedi. 26 (%22,9) olgunun ise 9’u M694V/- (%7,9), 6’sı M694V/M694V (%5,3), 3’ü M680I/- (%2,6),3’ü V726A/- (%2,6), 2’si E148Q/- (%1,8), biri M694V/M680I (%0,9), A744S/- (%0,9), biri ise R761H/- (%0,9) idi. 9 olguda (%7,9) AAA tanısı mevcuttu. IgAV/HSP+AAA hastalarında medyan CRP değerinin ve nonsteroidal anti-inflamatuvar ilaç (NSAİİ) ve kolşisin tedavisi alma oranının daha yüksek olduğu saptandı. TARTIŞMA ve SONUÇ: Çalışmamızda IgAV/HSP+AAA olan olgularda, IgAV/HSP sürecinde hastaların CRP değerlerinin daha yüksek ve NSAİİ ihtiyacının daha sık olabileceğini gözlemledik. IgAV/HSP tanısı ile takipli olan olgularda MEFV mutasyon varlığının gösterilmesi erken tanı ve etkin inflamasyon kontrolü ile olası komplikasyonların önüne geçilmesine yardımcı olabilir.ABSTRACT INTRODUCTION: Immunoglobulin A vasculitis/Henoch Schönlein purpura (IgAV/HSP) is the most common vasculitis in childhood. It is characterized by non-thrombocytopenic purpura, abdominal pain, gastrointestinal bleeding, arthritis or arthralgia and nephritis. Familial Mediterranean fever (FMF), is the most common autoinflammatory disease, manifesting with recurrent fever episodes and serositis. In this study, we aimed to determine the general characteristics and MEFV (Mediterranean FeVer) mutation occurrence rate in patients diagnosed with IgAV/HSP and to compare the clinical, laboratory and treatment characteristics of cases with FMF+IgAV/HSP and cases with only IgAV/HSP. METHODS: A total of 114 cases analyzed for MEFV out of 159 cases diagnosed with IgAV/HSP between the years 2014-2016 were included in the study. MEFV gene analysis, demographic, clinical, and laboratory findings were retrospectively recorded. In addition, patients with AAA and only IgAV / HSP cases were compared. RESULTS: The MEFV mutation was not detected in 88 cases. 9 of the 26 (22.9%) cases were M694V/- (7.9%), 6 were M694V/M694V (5.3%), 3 were M680I/- (2.6%), 3 were V726A/- (2.6%), 2 were E148Q/- (1.8%), one was M694V/M680I (0.9%) and one was R761H/- (0.9%). 9 cases (7.9%) were diagnosed with FMF. The median C-reactive protein (CRP) value was higher in IgAV/HSP+FMF patients and they had a higher rate of using nonsteroidal anti-inflammatory drugs (NSAIDs) and colchicine treatment. DISCUSSION and CONCLUSION: Patients with IgAV/HSP+FMF had higher CRP levels and needed NSAIDs more frequently during the course of IgAV/HSP. Demonstrating the presence of the MEFV mutation in cases diagnosed with IgAV/HSP may help to prevent possible complications through early diagnosis and effective control of inflammation. Key words: Immunoglobulin A vasculitis / Henoch Schönlein purpura; familial Mediterranean fever;

Anahtar Kelimeler:

immunglobulin A vasküliti, Henoch Schönlein purpurası, ailevi Akadeniz ateşi

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